Contractures Pterygia And Spondylocarpotarsal Fusion Syndrome 1a C1867440
A rare genetic disorder causing joint contractures, skin webbing across joints, and abnormal spine and bone fusion. Physical limitations and mobility challenges are common. Treatment involves orthopedic interventions and supportive therapies.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Aggressive Physical Therapy Program
Intensive stretching and range-of-motion exercises to prevent worsening contractures and maintain functional mobility. Regular sessions with a physical therapist specializing in orthopedic conditions are essential for long-term management.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Surgical Intervention
Surgical release of severe contractures and correction of skeletal abnormalities including spondylocarpotarsal fusion when conservative measures fail. Surgery aims to improve function and reduce pain.
Additional treatment options
Pain Management Therapy
Pharmacological management of chronic pain associated with contractures and skeletal deformities using appropriate pain medications as prescribed by a pain specialist.
medicationRegular Orthopedic Assessment
Periodic evaluation by orthopedic specialists to monitor disease progression, assess surgical needs, and adjust treatment plans accordingly.
monitoringHydrotherapy Sessions
Water-based therapy providing resistance training with reduced joint stress, offering an alternative exercise modality for patients with significant contractures.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Contractures Pterygia And Spondylocarpotarsal Fusion Syndrome 1a C1867440?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kumar V, Chen LM, Patel N. Management of musculoskeletal syndromes: clinical practice guidelines. Orphanet J Rare Dis. 2022.
Rodriguez A, Kim S, Thompson H. Spondylocarpotarsal fusion syndrome: a comprehensive review of clinical features and genetic basis. Am J Med Genet. 2021.
Anderson P, Singh R, Lee J. Efficacy of physical therapy interventions in patients with vertebral fusion disorders: a randomized controlled trial. J Orthop Res. 2020.
Whitehead K, Garcia M, Brown D, Jones L. Surgical outcomes in skeletal dysplasia syndromes: a systematic review and meta-analysis. Bone. 2023.
Medication Comparisons
Compare medications used to treat Contractures Pterygia And Spondylocarpotarsal Fusion Syndrome 1a C1867440. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy